Delfien Syx

ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 10

Top Venues

Human mutation

Genetics in medicine : official journal of the American College of Medical Genetics

medRxiv : the preprint server for health sciences

PLoS genetics

Ghent University

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Ghent University Oct 01 2016

Belgium

postdoctoral researcher :: Center for Medical Genetics

Publications

Marlies Colman, Delfien Syx, Inge De Wandele, Lies Rombaut, Deborah Wille, Zoë Malfait, Mira Meeus, Anne-Marie Malfait, Jessica Van Oosterwijck, Fransiska Malfait
Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation. medRxiv : the preprint server for health sciences (2023)
Marlies Colman, Delfien Syx, Inge De Wandele, Lies Rombaut, Deborah Wille, Zoë Malfait, Mira Meeus, Anne-Marie Malfait, Jessica Van Oosterwijck, Fransiska Malfait
Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation. medRxiv : the preprint server for health sciences (2023)
Marlies Colman, Robin Vroman, Tibbe Dhooge, Zoë Malfait, Sofie Symoens, Biruté Burnyté, Sheela Nampoothiri, Ariana Kariminejad, Fransiska Malfait, Delfien Syx
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms. Human mutation (2022)
Delfien Syx, Yoshihiro Ishikawa, Jan M Gebauer, Sergei P Boudko, Brecht Guillemyn, Tim Van Damme, Sanne D'hondt, Sofie Symoens, Sheela Nampoothiri, Douglas B Gould, Ulrich Baumann, Hans Peter Bächinger, Fransiska Malfait
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta. PLoS genetics 17 (2) (2021)
Tibbe Dhooge, Tim Van Damme, Delfien Syx, Laura Muiño Mosquera, Sheela Nampoothiri, Anil Radhakrishnan, Pelin Özlem Şimsek Kiper, Gülen Eda Utine, Maryse Bonduelle, Isabelle Migeotte, Osama Essawi, Serdar Ceylaner, Adila Al Kindy, Brad Tinkle, Sofie Symoens, Fransiska Malfait
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. Human mutation 42 (6) (2021)
Marlies Colman, Delfien Syx, Inge De Wandele, Tibbe Dhooge, Sofie Symoens, Fransiska Malfait
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome. Human mutation 42 (10) (2021)
Juan Li, Marco Ritelli, Cindy S Ma, Geetha Rao, Tanwir Habib, Emilie Corvilain, Salim Bougarn, Sophie Cypowyj, Lucie Grodecká, Romain Levy, Vivien Béziat, Lei Shang, Kathryn J Payne, Danielle T Avery, Mélanie Migaud, Soraya Boucherit, Sabri Boughorbel, Andrea Guennoun, Maya Chrabieh, Franck Rapaport, Benedetta Bigio, Yuval Itan, Bertrand Boisson, Valérie Cormier-Daire, Delfien Syx, Fransiska Malfait, Nicoletta Zoppi, Laurent Abel, Tomas Freiberger, Harry C Dietz, Nico Marr, Stuart G Tangye, Marina Colombi, Jean Laurent Casanova, Anne Puel
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β. Science immunology 4 (41) (2020)
Sarah Delbaere, Tibbe Dhooge, Delfien Syx, Florence Petit, Nathalie Goemans, Anne Destrée, Olivier M Vanakker, Teddy Jégu, Sofie Symoens, Fransiska Malfait
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Sarah Naessens, Julie De Zaeytijd, Delfien Syx, Roosmarijn E. Vandenbroucke, Frédéric Smeets, Caroline Van Cauwenbergh, Bart Peter Leroy, Frank Peelman, Frauke Coppieters
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond. Human mutation 40 (5) (2019)
Tim Van Damme, Alain Colige, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Simsek-Kiper, Hester Y Kroes, Koen Devriendt, Marc Thiry, Sofie Symoens, Anne De Paepe, Fransiska Malfait
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. Genetics in medicine : official journal of the American College of Medical Genetics 18 (9) (2016)

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Publication Activity (10 Years)

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Delfien Syx